FYB1 gene related symptoms and diseases

All the information presented here about the FYB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources:
NCBIGENE,HGNC,OMIM,
Mendelian Rare Disease Search Engine.

Other less frequent symptoms and clinical features

Patients with FYB1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Epistaxis

Petechiae

Giant platelets

Decreased mean platelet volume

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Rare diseases associated to FYB1 gene

Here you will find a list of rare diseases related to the FYB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

THROMBOCYTOPENIA 3; THC3

Alternate names

THROMBOCYTOPENIA 3; THC3 Is also known as thrombocytopenia, autosomal recessive, 3

Description

Thrombocytopenia-3 is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider. MendelTest does not intend to diagnose patients. It is providing information in order for patients to find and get better management of expert certified clinical assistance. This service is using Human Phenotype Ontology (Build #1700 - Oct 2017). Find out more at www.human-phenotype-ontology.org.

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